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Angelman Syndrome

A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Year introduced: 1993

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Tree Number(s): C10.228.662.075, C16.131.077.095, C16.131.260.040, C16.320.180.040

MeSH Unique ID: D017204

Entry Terms:

  • Syndrome, Angelman
  • Puppet Children
  • Children, Puppet
  • Happy Puppet Syndrome
  • Syndrome, Happy Puppet

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